Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S1982fs
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BRCA2

NM_000059.4:p.S1982fs

Associated Papers

Identifying a Recurrent BRCA1 Variant in the Qatari Population With Unique Genotype-Phenotype Correlations.

Bujassoum Al-Bader S et al.

Molecular Genetics & Genomic Medicine, 2026

A recurrent pathogenic BRCA2 truncating variant reveals a role for BRCA2-PCAF complex in modulating NF-κB-driven transcription.

Minello A et al.

Nature Communications, 2025

41372141 (PubMed )
Supplement: 41467_2025_67209_MOESM9_ESM.pdf

Different association of gBRCA1 and gBRCA2 variants with HER2-low status in invasive breast cancer: findings from a Ukrainian study.

Livshun S et al.

Scientific Reports, 2025

Genetics and context for precision health in Greater Boston.

Koyama S et al.

Nature Communications, 2025

Screening of the founder pathogenic variants BRCA1 and BRCA2 in Russian metropolitan women.

Bodunova N et al.

Bmc Women's Health, 2025

Circulating Tumor DNA as a Biomarker for Precision Medicine in Prostate Cancer: A Systematic Review.

Chanhih N et al.

International Journal of Molecular Sciences, 2025

41303533 (PubMed )
Supplement: ijms-26-11049-s001.zip › Supp_M_Table_S7.pdf

Genomic and Epigenomic ctDNA Profiling in Liquid Biopsies from Heavily Pretreated Patients with DNA Damage Response-Deficient Tumors.

Silverman IM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40705098 (PubMed )
Supplement: ccr-25-1248_supplementary_table_s2_suppts2.xlsx › Sheet_1

Breast biopsies and breast cancer risk in Israeli BRCA germline pathogenic variant carriers.

Madorsky Feldman D et al.

Breast Cancer Research and Treatment, 2025

Genetic determinants of prostate cancer predisposition in Ashkenazi Jews.

Perletti G et al.

Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025

Cambridge Neoadjuvant Cancer of the Prostate (CANCAP03): A Window Study into the Effects of Olaparib ± Degarelix in Primary Prostate Cancer.

Dev H et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.

Prassas B et al.

Cancer Medicine, 2025

40462315 (PubMed )
Supplement: CAM4-14-e70990-s001.xlsx › sTable_1

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

CA125 Serum Levels in BRCA1/BRCA2 Pathogenic Sequence Variant Carriers as an Ovarian Cancer Screening Tool: A Longitudinal Study.

Madorsky Feldman D et al.

The Israel Medical Association Journal : Imaj, 2025

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM9_ESM.xlsx › Western_Asian_BRCA2

Exploring the differences between BRCA mutated and HRwild-type high grade serous ovarian cancer: A multiomic analysis.

Alvero AB et al.

Gynecologic Oncology, 2025

BRCA1 and BRCA2 Mutations in Polish Women with Ductal Carcinoma In Situ.

Feszak S et al.

Cancers, 2025

Whole genome and transcriptome analysis of pancreatic acinar cell carcinoma elucidates mechanisms of homologous recombination deficiency and unravels novel relevant fusion events.

Delgado-de la Mora J et al.

Pathology, Research and Practice, 2025

The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024).

Torr B et al.

Journal of Medical Genetics, 2025

Analytical validation of a homologous recombination deficiency signature (HRDsig) in pan-tumor tissue samples.

Li W et al.

Plos One, 2025

41248118 (PubMed )
Supplement: pone.0336940.s006.xlsx › Sheet1

Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.

Elze L et al.

Journal of the National Cancer Institute, 2024

38960732 (PubMed )
Supplement: djae160_supplementary_data.zip › djae160_Supplementary_Data › JNCI-24-0169_supplementaryTables_revised.xlsx › Supplementary_Table_S2

The genetic landscape of Lynch syndrome in the Israeli population.

Abu Shtaya A et al.

Familial Cancer, 2024

Familial Pancreatic Cancer Research: Bridging Gaps in Basic Research and Clinical Application.

Archasappawat S et al.

Biomolecules, 2024

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Internal Overview of Prostatic Cancer Cases and Quality of BRCA1 and BRCA2 NGS Data from the FFPE Tissue.

Antolini E et al.

Diagnostics (basel, Switzerland), 2024

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

Breast cancer diagnosed after age 70 years in Israeli BRCA1/BRCA2 pathogenic sequence variant carriers: a single institution experience.

Bufman H et al.

Breast Cancer Research and Treatment, 2024

Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors.

Summey RM et al.

Cancer Medicine, 2024

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.

Makhetha M et al.

South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2024

The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients.

Grigore LG et al.

Current Issues in Molecular Biology, 2024

Next-Generation Sequencing Testing Can Save Generations of Lives.

Taha M et al.

Jco Precision Oncology, 2024

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM3_ESM.xlsx › Sheet1

Whole-Genome Sequencing Analysis of Male Breast Cancer Unveils Novel Structural Events and Potential Therapeutic Targets.

Al Assaad M et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024

Phase II study of nivolumab in patients with genetic alterations in DNA damage repair and response who progressed after standard treatment for metastatic solid cancers (KM-06).

Kim JW et al.

Journal for Immunotherapy of Cancer, 2024

38485184 (PubMed )
Supplement: jitc-2023-008638supp001.pdf

National Rapid Genome Sequencing in Neonatal Intensive Care.

Marom D et al.

Jama Network Open, 2024

38386321 (PubMed )
Supplement: jamanetwopen-e240146-s002.xlsx › eTable_2

Case Series of Men with the Germline APC I1307K variant and Treatment-Emergent Neuroendocrine Prostate Cancer.

Economides MP et al.

Clinical Genitourinary Cancer, 2024

Germline loss-of-function BRCA1 and BRCA2 mutations and risk of de novo hematopoietic malignancies.

Stubbins RJ et al.

Haematologica, 2024

37139596 (PubMed )
Supplement: 2022_281580_STUBBINS_SUPPL.pdf

Whole exome germline sequencing in early-onset prostate cancer patients: Genomic findings and clinical outcomes.

Siegelmann-Danieli N et al.

The Prostate, 2024

Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.

Chen C et al.

Cell Discovery, 2023

Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors.

Groves A et al.

Pediatric Blood & Cancer, 2023

Decoding Genetics, Ancestry, and Geospatial Context for Precision Health.

Koyama S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study.

Turner NC et al.

Npj Breast Cancer, 2023

37803017 (PubMed )
Supplement: 41523_2023_561_MOESM1_ESM.pdf

Long-molecule scars of backup DNA repair in BRCA1- and BRCA2-deficient cancers.

Setton J et al.

Nature, 2023

37587346 (PubMed )
Supplement: 41586_2023_6461_MOESM10_ESM.xlsx › EDF4B_ONCOTABLE

Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.

Tung N et al.

Npj Precision Oncology, 2023

POLQ inhibition elicits an immune response in homologous recombination-deficient pancreatic adenocarcinoma via cGAS/STING signaling.

Oh G et al.

The Journal of Clinical Investigation, 2023

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Cătană A et al.

Biomedicines, 2023

Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer.

Savkova A et al.

International Journal of Molecular Sciences, 2023

Emergence of BRCA Reversion Mutations in Patients with Metastatic Castration-resistant Prostate Cancer After Treatment with Rucaparib.

Loehr A et al.

European Urology, 2023

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.

Abdallah N et al.

Cancer Causes & Control : Ccc, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."